Women's Health and Genetics/Laboratory Corporation of America (LabCorp), WHG-LC
General information
Women's Health and Genetics/Laboratory Corporation of America, WHG-LC
LabCorp
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026
LabCorp
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026
Personnel
- Wenjie Chen, Staff
Phone: 508-389-8391
Email: Chenw5@LabCorp.com - Sabrina Gardner, Staff
Phone: 919-224-5692
Email: Gardns2@LabCorp.com - Michalis Konstantinidis, Staff
Phone: 508-870-9425
Email: Konstam@labcorp.com - Manya Warrier, Staff
Phone: 919-361-7729
Email: Warriem@labcorp.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 22950
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 179 | Jan 6, 2022 |
| ABCA1 | 63 | Jan 6, 2022 |
| ABCA12 | 1 | Jan 6, 2022 |
| ABCA4 | 3 | Apr 29, 2020 |
| ABCA7 | 1 | Dec 21, 2021 |
| ABCB11 | 5 | Jan 6, 2022 |
| ABCB4 | 6 | Jan 6, 2022 |
| ABCC8 | 71 | Jan 6, 2022 |
| ABCC9 | 46 | Jan 6, 2022 |
| ABCD1 | 23 | Jan 6, 2022 |
| ABCD4 | 5 | Jan 6, 2022 |
| ABRAXAS1 | 66 | Jan 6, 2022 |
| ACAD9 | 4 | Jan 6, 2022 |
| ACADM | 31 | Jan 6, 2022 |
| ACADVL | 43 | Jan 6, 2022 |
| ACAT1 | 14 | Dec 21, 2021 |
| ACER3 | 2 | Mar 6, 2020 |
| ACOX1 | 2 | Jan 6, 2022 |
| ACSF3 | 5 | Jan 6, 2022 |
| ACSL4 | 2 | Sep 9, 2020 |
| ACTA2 | 12 | Dec 21, 2021 |
| ACTA2-AS1 | 3 | Nov 10, 2020 |
| ACTB | 1 | Oct 22, 2021 |
| ACTC1 | 27 | May 19, 2021 |
| ACTN2 | 43 | Dec 21, 2021 |
| ACVRL1 | 4 | Aug 5, 2021 |
| ACYP1 | 1 | Jan 25, 2018 |
| ADA | 20 | Jan 6, 2022 |
| ADA2 | 1 | Dec 2, 2020 |
| ADAMTS13 | 1 | May 19, 2021 |
| ADAMTS2 | 28 | Dec 21, 2021 |
| ADAMTSL2 | 1 | Apr 29, 2020 |
| ADAR | 1 | Dec 21, 2021 |
| ADAT3 | 2 | Dec 31, 2020 |
| ADGRG6 | 1 | Jul 1, 2020 |
| ADGRV1 | 9 | Dec 21, 2021 |
| ADRA2B | 1 | Mar 6, 2020 |
| AFF2 | 2 | Mar 6, 2020 |
| AFF4 | 1 | Aug 6, 2020 |
| AFG3L2 | 1 | Dec 21, 2021 |
| AGA | 4 | Dec 21, 2021 |
| AGL | 36 | Jan 6, 2022 |
| AGXT | 24 | Jan 6, 2022 |
| AHI1 | 1 | Jan 6, 2022 |
| AICDA | 5 | Jul 9, 2020 |
| AIFM1 | 2 | Jul 1, 2020 |
| AIPL1 | 1 | Jan 6, 2022 |
| AIRE | 33 | Dec 21, 2021 |
| AK2 | 4 | Nov 16, 2021 |
| AKAP9 | 76 | Jan 6, 2022 |
| AKT3 | 1 | Mar 6, 2020 |
| ALDH3A2 | 18 | Jan 6, 2022 |
| ALDH5A1 | 1 | Apr 7, 2021 |
| ALDOB | 17 | Jan 6, 2022 |
| ALG1 | 1 | Jan 6, 2022 |
| ALG11 | 1 | Aug 18, 2011 |
| ALG12 | 2 | Oct 6, 2020 |
| ALG13 | 1 | Mar 6, 2020 |
| ALG2 | 2 | May 13, 2020 |
| ALG6 | 3 | Jan 6, 2022 |
| ALK | 32 | Jan 6, 2022 |
| ALMS1 | 160 | Jan 6, 2022 |
| ALOXE3 | 1 | Jan 6, 2022 |
| ALPL | 39 | Jan 6, 2022 |
| AMPD2 | 2 | May 19, 2021 |
| AMT | 7 | Jan 6, 2022 |
| ANK2 | 105 | Jan 6, 2022 |
| ANK3 | 1 | Apr 7, 2021 |
| ANKRD1 | 11 | Jan 25, 2018 |
| ANKRD11 | 1 | Mar 6, 2020 |
| ANOS1 | 1 | Oct 6, 2020 |
| ANTXR2 | 2 | Jan 6, 2022 |
| AOPEP | 29 | Dec 21, 2021 |
| AP4B1 | 1 | Mar 6, 2020 |
| AP4M1 | 2 | Dec 21, 2021 |
| APBB1 | 2 | Sep 24, 2019 |
| APC | 467 | Jan 6, 2022 |
| APIP | 1 | Dec 21, 2021 |
| APOA1 | 10 | Oct 22, 2021 |
| APOA1-AS | 6 | Jun 17, 2021 |
| APOA2 | 11 | Dec 31, 2020 |
| APOA5 | 8 | Jan 25, 2018 |
| APOB | 14 | Jul 7, 2021 |
| APOC3 | 5 | Nov 16, 2021 |
| APPL1 | 1 | Aug 5, 2021 |
| AQP2 | 6 | Nov 17, 2015 |
| AQP5-AS1 | 5 | Nov 17, 2015 |
| ARG1 | 1 | Dec 21, 2021 |
| ARID1A | 1 | Oct 6, 2020 |
| ARL13B | 2 | Jan 6, 2022 |
| ARSA | 38 | Jan 6, 2022 |
| ARSB | 19 | Jan 6, 2022 |
| ARSL | 2 | Apr 7, 2021 |
| ARX | 3 | Mar 6, 2020 |
| ASAH1 | 1 | Apr 29, 2020 |
| ASB11 | 1 | Sep 9, 2020 |
| ASL | 18 | Jan 6, 2022 |
| ASPA | 16 | Apr 27, 2021 |
| ASPH | 1 | Dec 21, 2021 |
| ASPM | 3 | Mar 6, 2020 |
| ASS1 | 27 | Jan 6, 2022 |
| ASXL1 | 2 | Apr 24, 2019 |
| ATL1 | 1 | Mar 6, 2020 |
| ATM | 706 | Jan 6, 2022 |
| ATN1 | 1 | Apr 29, 2020 |
| ATP13A2 | 2 | Jan 6, 2022 |
| ATP1A3 | 1 | Mar 6, 2020 |
| ATP1B1 | 10 | Jan 6, 2022 |
| ATP5MK | 1 | Oct 6, 2020 |
| ATP6V0A4 | 6 | Jan 6, 2022 |
| ATP6V1B1 | 6 | Jan 6, 2022 |
| ATP7A | 2 | Dec 21, 2021 |
| ATP7B | 234 | Nov 16, 2021 |
| ATP8A2 | 2 | Mar 6, 2020 |
| ATP8B1 | 6 | Jan 6, 2022 |
| ATP8B1-AS1 | 2 | Jan 6, 2022 |
| ATR | 11 | Jan 25, 2018 |
| ATRIP | 1 | Jan 6, 2022 |
| ATRIP-TREX1 | 1 | Jan 6, 2022 |
| ATRX | 6 | Sep 1, 2021 |
| AVIL | 1 | Dec 31, 2020 |
| AVPR2 | 15 | Nov 17, 2015 |
| AXDND1 | 9 | Jun 17, 2021 |
| AXIN2 | 34 | Jan 6, 2022 |
| B9D1 | 1 | Sep 1, 2021 |
| BAG3 | 25 | Dec 21, 2021 |
| BARD1 | 152 | Nov 16, 2021 |
| BBS1 | 17 | May 19, 2021 |
| BBS10 | 24 | Jan 6, 2022 |
| BBS12 | 3 | Jan 6, 2022 |
| BBS2 | 27 | Dec 21, 2021 |
| BBS4 | 2 | Jan 6, 2022 |
| BBS5 | 1 | Nov 16, 2021 |
| BBS7 | 2 | Nov 16, 2021 |
| BBS9 | 2 | Jan 6, 2022 |
| BCHE | 6 | Jan 6, 2022 |
| BCKDHA | 13 | Nov 16, 2021 |
| BCKDHB | 25 | Jan 6, 2022 |
| BCL11A | 1 | Oct 22, 2021 |
| BCOR | 1 | Apr 24, 2019 |
| BCORL1 | 2 | May 13, 2020 |
| BCS1L | 5 | Nov 10, 2020 |
| BIVM-ERCC5 | 9 | Oct 22, 2021 |
| BLK | 2 | Jan 6, 2022 |
| BLM | 61 | Jan 6, 2022 |
| BLOC1S6 | 1 | Feb 9, 2021 |
| BMP1 | 1 | Nov 16, 2021 |
| BMPR1A | 68 | Dec 21, 2021 |
| BRAF | 89 | Dec 21, 2021 |
| BRCA1 | 1224 | Jan 6, 2022 |
| BRCA2 | 2108 | Jan 6, 2022 |
| BRIP1 | 202 | Jan 6, 2022 |
| BRPF1 | 1 | Apr 27, 2021 |
| BSND | 2 | Jan 6, 2022 |
| BTD | 11 | Jan 6, 2022 |
| BTK | 40 | Jan 6, 2022 |
| C10orf105 | 2 | Jan 6, 2022 |
| C11orf65 | 252 | Jan 6, 2022 |
| C12orf43 | 2 | Nov 10, 2020 |
| C5 | 1 | Aug 5, 2021 |
| CACNA1A | 2 | Feb 9, 2021 |
| CACNA1C | 63 | Jan 6, 2022 |
| CACNA1C-AS1 | 26 | Sep 1, 2021 |
| CACNA1C-AS2 | 2 | Apr 7, 2021 |
| CACNA1E | 1 | Mar 6, 2020 |
| CACNA1H | 3 | Jun 17, 2021 |
| CACNA1S | 8 | Mar 6, 2020 |
| CACNB2 | 21 | Dec 21, 2021 |
| CACNG2 | 1 | Apr 29, 2020 |
| CAD | 3 | Jan 6, 2022 |
| CALCR | 1 | Jul 7, 2021 |
| CALR3 | 11 | Jan 25, 2018 |
| CAMK4 | 1 | Jul 1, 2020 |
| CAPN3 | 8 | Jan 6, 2022 |
| CARD14 | 1 | Jan 25, 2018 |
| CASQ2 | 15 | Jan 6, 2022 |
| CASR | 68 | Jan 6, 2022 |
| CATIP-AS2 | 1 | Jan 6, 2022 |
| CAV3 | 13 | Jan 6, 2022 |
| CBL | 69 | Dec 21, 2021 |
| CBS | 47 | Jan 6, 2022 |
| CC2D1A | 2 | Feb 26, 2021 |
| CC2D2A | 1 | Dec 2, 2020 |
| CCBE1 | 1 | Mar 6, 2020 |
| CCDC107 | 1 | Mar 6, 2020 |
| CCDC40 | 1 | Jan 25, 2018 |
| CCDC8 | 1 | Nov 16, 2021 |
| CD3D | 1 | Aug 18, 2011 |
| CD3E | 7 | Apr 24, 2019 |
| CD40 | 8 | Nov 10, 2020 |
| CD40LG | 10 | Nov 10, 2020 |
| CD46 | 1 | Aug 5, 2021 |
| CDC73 | 6 | Mar 6, 2020 |
| CDH1 | 202 | Jan 6, 2022 |
| CDH23 | 9 | Jan 6, 2022 |
| CDH23-AS1 | 1 | Jan 6, 2022 |
| CDK13 | 2 | Jun 17, 2021 |
| CDK4 | 37 | Jan 6, 2022 |
| CDK5RAP1 | 1 | Mar 6, 2020 |
| CDK5RAP2 | 3 | Dec 21, 2021 |
| CDKN2A | 54 | Dec 21, 2021 |
| CDKN2A-DT | 1 | Feb 9, 2021 |
| CEL | 2 | Apr 29, 2020 |
| CENPF | 2 | Mar 6, 2020 |
| CEP104 | 1 | Jan 6, 2022 |
| CEP290 | 9 | Jan 6, 2022 |
| CEP85L | 1 | Mar 6, 2020 |
| CERKL | 2 | Jan 6, 2022 |
| CERS3 | 1 | Jan 6, 2022 |
| CERS3-AS1 | 1 | Jan 6, 2022 |
| CFAP418 | 1 | Apr 29, 2020 |
| CFAP92 | 1 | Sep 1, 2021 |
| CFHR2 | 1 | Aug 5, 2021 |
| CFHR3 | 1 | Aug 5, 2021 |
| CFHR4 | 1 | Aug 5, 2021 |
| CFHR5 | 2 | Jan 6, 2022 |
| CFI | 1 | Aug 5, 2021 |
| CFTR | 707 | Jan 6, 2022 |
| CFTR-AS1 | 66 | Jan 6, 2022 |
| CHAMP1 | 1 | Feb 26, 2021 |
| CHAT | 5 | Jan 6, 2022 |
| CHD2 | 1 | Oct 22, 2021 |
| CHD3 | 1 | Nov 16, 2021 |
| CHD4 | 1 | Apr 29, 2020 |
| CHD7 | 22 | Jan 6, 2022 |
| CHD8 | 2 | Sep 1, 2021 |
| CHEK1 | 3 | Jan 25, 2018 |
| CHEK2 | 166 | Jan 6, 2022 |
| CHMP1A | 1 | Jan 6, 2022 |
| CHPT1 | 3 | Feb 26, 2021 |
| CHRNA1 | 1 | Dec 31, 2020 |
| CHRNA4 | 1 | Feb 9, 2021 |
| CHRNG | 1 | Jan 6, 2022 |
| CHST14 | 2 | Oct 22, 2021 |
| CIB2 | 1 | Jan 6, 2022 |
| CIC | 4 | Aug 5, 2021 |
| CIITA | 1 | Jan 6, 2022 |
| CLCN1 | 1 | Mar 6, 2020 |
| CLCN4 | 1 | Apr 29, 2020 |
| CLCN7 | 1 | May 13, 2020 |
| CLCNKA | 2 | Jan 6, 2022 |
| CLCNKB | 5 | Jan 6, 2022 |
| CLN3 | 16 | Jan 6, 2022 |
| CLN5 | 9 | Jan 6, 2022 |
| CLN6 | 4 | Jan 6, 2022 |
| CLN8 | 4 | Jan 6, 2022 |
| CLRN1 | 6 | Jan 6, 2022 |
| CLRN1-AS1 | 1 | Jan 25, 2018 |
| CNKSR2 | 1 | Aug 5, 2021 |
| CNTN2 | 1 | Dec 31, 2020 |
| CNTNAP2 | 1 | Dec 21, 2021 |
| CNTNAP5 | 1 | Nov 10, 2020 |
| COBL | 1 | May 13, 2020 |
| COL11A1 | 1 | Apr 29, 2020 |
| COL12A1 | 2 | May 19, 2021 |
| COL1A1 | 40 | Dec 31, 2020 |
| COL1A2 | 31 | Mar 6, 2020 |
| COL2A1 | 2 | Apr 24, 2019 |
| COL3A1 | 88 | Jan 6, 2022 |
| COL4A2 | 2 | Sep 1, 2021 |
| COL4A3 | 37 | Jan 6, 2022 |
| COL4A5 | 8 | Jan 6, 2022 |
| COL4A6 | 1 | Mar 6, 2020 |
| COL5A1 | 23 | Jun 17, 2021 |
| COL5A2 | 13 | Mar 6, 2020 |
| COL6A1 | 2 | Apr 29, 2020 |
| COL6A2 | 1 | Jan 6, 2022 |
| COL7A1 | 3 | Mar 6, 2020 |
| COL9A2 | 1 | Jul 1, 2020 |
| COL9A3 | 1 | Apr 29, 2020 |
| COLQ | 1 | Sep 1, 2021 |
| COQ9 | 1 | May 22, 2020 |
| COX15 | 3 | Dec 2, 2020 |
| CP | 4 | Jan 6, 2022 |
| CPLANE1 | 3 | Apr 29, 2020 |
| CPS1 | 23 | Jan 6, 2022 |
| CPT1A | 1 | Jan 6, 2022 |
| CPT2 | 22 | Jan 6, 2022 |
| CRB2 | 1 | Dec 31, 2020 |
| CRBN | 1 | Mar 6, 2020 |
| CREBBP | 1 | Jun 17, 2021 |
| CRLF1 | 1 | Oct 22, 2021 |
| CRYBB1 | 1 | Oct 6, 2020 |
| CSF2RA | 2 | Mar 6, 2020 |
| CSRP3 | 7 | Nov 16, 2021 |
| CTCF | 2 | Nov 10, 2020 |
| CTF1 | 6 | Aug 5, 2021 |
| CTNS | 22 | Jan 6, 2022 |
| CTNS-AS1 | 8 | Jan 6, 2022 |
| CTSA | 10 | Jan 6, 2022 |
| CTSB | 1 | Dec 31, 2020 |
| CTSD | 1 | Jan 6, 2022 |
| CTSF | 3 | Jan 6, 2022 |
| CTSK | 1 | Aug 5, 2021 |
| CUX2 | 1 | Mar 6, 2020 |
| CYBA | 3 | Jan 6, 2022 |
| CYBB | 26 | Sep 1, 2021 |
| CYP11B1 | 20 | Jan 6, 2022 |
| CYP17A1 | 3 | Jan 6, 2022 |
| CYP1B1 | 14 | Jan 6, 2022 |
| CYP21A2 | 10 | Jan 6, 2022 |
| CYP27A1 | 6 | Jan 6, 2022 |
| CYP4F22 | 3 | Oct 22, 2021 |
| D2HGDH | 1 | Dec 2, 2020 |
| DBT | 6 | Jan 6, 2022 |
| DCLRE1B | 1 | Mar 6, 2020 |
| DCLRE1C | 5 | Sep 24, 2019 |
| DCPS | 1 | Jan 6, 2022 |
| DDC | 3 | Jan 6, 2022 |
| DDX3X | 1 | May 13, 2020 |
| DEAF1 | 1 | Mar 6, 2020 |
| DEPDC5 | 2 | May 19, 2021 |
| DES | 16 | Sep 1, 2021 |
| DES-LCR | 1 | Nov 10, 2020 |
| DGKE | 3 | Aug 5, 2021 |
| DHCR7 | 47 | Jan 6, 2022 |
| DHDDS | 3 | Oct 22, 2021 |
| DIAPH1 | 1 | Dec 2, 2020 |
| DICER1 | 1 | Apr 29, 2020 |
| DLAT | 1 | Jan 6, 2022 |
| DLD | 6 | Jan 6, 2022 |
| DLG4 | 1 | Jan 25, 2018 |
| DLL3 | 1 | Apr 24, 2019 |
| DLL4 | 1 | Oct 6, 2020 |
| DMD | 180 | Jan 6, 2022 |
| DNA2 | 1 | Mar 6, 2020 |
| DNAAF3 | 2 | Jan 6, 2022 |
| DNAH7 | 2 | Mar 6, 2020 |
| DNAJC19 | 3 | Apr 29, 2020 |
| DNASE1L1 | 1 | Aug 18, 2011 |
| DOCK3 | 2 | Sep 9, 2020 |
| DOCK8 | 2 | Jan 6, 2022 |
| DOK7 | 3 | Jan 6, 2022 |
| DPAGT1 | 1 | Dec 21, 2021 |
| DPM2 | 1 | Nov 10, 2020 |
| DPP6 | 1 | Dec 2, 2020 |
| DPYD | 26 | Jan 6, 2022 |
| DPYD-AS1 | 3 | Aug 5, 2021 |
| DSC2 | 54 | Jan 6, 2022 |
| DSCAS | 1 | Sep 9, 2020 |
| DSG2 | 48 | Dec 21, 2021 |
| DSG2-AS1 | 15 | Aug 5, 2021 |
| DSP | 139 | Jan 6, 2022 |
| DSP-AS1 | 5 | Nov 16, 2021 |
| DTNA | 28 | Dec 21, 2021 |
| DTNBP1 | 1 | Jan 6, 2022 |
| DUOX2 | 2 | Apr 24, 2019 |
| DYNC1H1 | 1 | Dec 2, 2020 |
| DYRK1A | 6 | Apr 27, 2021 |
| DYSF | 10 | Jan 6, 2022 |
| EDNRB | 1 | Mar 6, 2020 |
| EDNRB-AS1 | 1 | Mar 6, 2020 |
| EEF1A2 | 1 | Feb 26, 2021 |
| EFEMP2 | 6 | Sep 1, 2021 |
| EFHC1 | 1 | Mar 6, 2020 |
| EFNB1 | 1 | May 13, 2020 |
| EFNB2 | 1 | Mar 6, 2020 |
| EHMT1 | 1 | Dec 31, 2020 |
| EIF2B2 | 2 | Sep 9, 2020 |
| EIF2B3 | 2 | Nov 16, 2021 |
| EIF2B5 | 1 | Nov 16, 2021 |
| ELN | 2 | Jun 17, 2021 |
| ELP1 | 16 | Jan 6, 2022 |
| EMD | 13 | Dec 21, 2021 |
| ENG | 4 | Aug 5, 2021 |
| EP300 | 1 | Dec 2, 2020 |
| EP400 | 1 | Feb 9, 2021 |
| EPCAM | 5 | Oct 22, 2020 |
| EPHA3 | 1 | Feb 26, 2021 |
| ERCC2 | 4 | Jan 6, 2022 |
| ERCC3 | 1 | Apr 29, 2020 |
| ERCC4 | 1 | Jan 6, 2022 |
| ERCC5 | 9 | Oct 22, 2021 |
| ERCC6 | 8 | Jan 6, 2022 |
| ERCC6-PGBD3 | 1 | Jan 6, 2022 |
| ERCC8 | 3 | Dec 21, 2021 |
| ERMARD | 1 | Apr 24, 2019 |
| ETFA | 3 | Jan 6, 2022 |
| ETFDH | 3 | Jan 6, 2022 |
| ETHE1 | 8 | Dec 31, 2020 |
| EXOSC3 | 1 | Dec 21, 2021 |
| EXT1 | 1 | Apr 24, 2019 |
| EYA4 | 23 | Jan 6, 2022 |
| EYS | 7 | Jan 6, 2022 |
| F13A1 | 1 | Jan 6, 2022 |
| FA2H | 2 | Dec 21, 2021 |
| FAH | 16 | Feb 9, 2021 |
| FAM111B | 1 | Nov 16, 2021 |
| FAM20A | 4 | Mar 6, 2020 |
| FANCA | 15 | Jan 6, 2022 |
| FANCB | 1 | Jan 6, 2022 |
| FANCC | 49 | Dec 21, 2021 |
| FANCD2 | 5 | Jan 6, 2022 |
| FANCG | 1 | Jan 6, 2022 |
| FANCI | 5 | Jan 6, 2022 |
| FANCL | 2 | Sep 1, 2021 |
| FAT4 | 2 | May 13, 2020 |
| FBN1 | 509 | Jan 6, 2022 |
| FBN2 | 18 | Jan 25, 2018 |
| FBXL3 | 8 | Jan 6, 2022 |
| FBXL4 | 1 | Jan 6, 2022 |
| FCN3 | 1 | Nov 10, 2020 |
| FCSK | 2 | Apr 29, 2020 |
| FERMT3 | 1 | Mar 6, 2020 |
| FGD1 | 2 | Apr 29, 2020 |
| FGF23 | 2 | Aug 18, 2011 |
| FGFR1 | 1 | Apr 29, 2020 |
| FGG | 1 | Dec 21, 2021 |
| FH | 10 | Sep 1, 2021 |
| FHL1 | 2 | May 19, 2021 |
| FKRP | 3 | Jan 6, 2022 |
| FKTN | 23 | Dec 21, 2021 |
| FLCN | 15 | Nov 16, 2021 |
| FLG | 1 | Feb 9, 2021 |
| FLNC | 3 | Aug 5, 2021 |
| FLT4 | 2 | Feb 26, 2021 |
| FOXN1 | 1 | Jan 6, 2022 |
| FOXP1 | 3 | Sep 9, 2020 |
| FOXP2 | 1 | Apr 24, 2019 |
| FOXP3 | 3 | Jan 6, 2022 |
| FOXRED1 | 3 | Oct 6, 2020 |
| FRAS1 | 1 | Jan 6, 2022 |
| FREM2 | 3 | Jan 6, 2022 |
| FRMPD4 | 2 | Nov 16, 2021 |
| FTCD | 1 | Oct 22, 2021 |
| FUCA1 | 9 | Jan 6, 2022 |
| G6PC1 | 27 | Jan 6, 2022 |
| G6PD | 3 | Apr 27, 2021 |
| GAA | 153 | Jan 6, 2022 |
| GABRA5 | 1 | Dec 21, 2021 |
| GABRQ | 1 | Apr 29, 2020 |
| GAL3ST4 | 1 | Nov 10, 2020 |
| GALC | 40 | Jan 6, 2022 |
| GALE | 2 | Nov 16, 2021 |
| GALK1 | 2 | Jan 6, 2022 |
| GALNS | 33 | Jan 6, 2022 |
| GALT | 118 | Jan 6, 2022 |
| GAMT | 12 | Dec 21, 2021 |
| GAREM2 | 11 | Nov 16, 2021 |
| GATA4 | 1 | Sep 1, 2021 |
| GATAD1 | 8 | Nov 16, 2021 |
| GATM | 2 | Jan 6, 2022 |
| GBA | 75 | Jan 6, 2022 |
| GBA2 | 2 | Dec 31, 2020 |
| GBE1 | 6 | Dec 21, 2021 |
| GCDH | 29 | Dec 21, 2021 |
| GCH1 | 1 | Dec 21, 2021 |
| GCK | 126 | Jan 6, 2022 |
| GDF5 | 1 | Jul 1, 2020 |
| GDI1 | 2 | Dec 21, 2021 |
| GEMIN5 | 2 | Aug 5, 2021 |
| GFAP | 1 | Oct 22, 2021 |
| GFI1 | 1 | Jun 17, 2021 |
| GFPT1 | 2 | May 19, 2021 |
| GH-LCR | 2 | Apr 29, 2020 |
| GH1 | 1 | Aug 18, 2011 |
| GHRHR | 4 | Aug 18, 2011 |
| GINS3 | 2 | Mar 6, 2020 |
| GJB1 | 1 | Jan 25, 2018 |
| GJB2 | 104 | Jan 6, 2022 |
| GJD2-DT | 27 | May 19, 2021 |
| GLA | 176 | Dec 21, 2021 |
| GLB1 | 28 | Jan 6, 2022 |
| GLDC | 28 | Jan 6, 2022 |
| GLI1 | 1 | Apr 29, 2020 |
| GLI2 | 1 | Mar 6, 2020 |
| GML | 17 | Oct 18, 2019 |
| GNAI3 | 1 | Apr 29, 2020 |
| GNE | 5 | Jan 6, 2022 |
| GNPAT | 2 | Jan 6, 2022 |
| GNPTAB | 37 | Jan 6, 2022 |
| GNS | 1 | Jan 25, 2018 |
| GP9 | 1 | Jul 1, 2020 |
| GPAA1 | 1 | Mar 6, 2020 |
| GPC3 | 7 | Oct 22, 2021 |
| GPD1L | 9 | Aug 5, 2021 |
| GPHN | 1 | Jan 6, 2022 |
| GREB1L | 1 | Apr 29, 2020 |
| GRHPR | 9 | Oct 22, 2021 |
| GRIN2A | 1 | May 19, 2021 |
| GRIN2B | 2 | Apr 7, 2021 |
| GRXCR1 | 1 | Dec 2, 2020 |
| GSS | 6 | Apr 29, 2020 |
| GUF1 | 2 | Dec 31, 2020 |
| GUSB | 8 | Aug 6, 2020 |
| HADHA | 25 | Nov 16, 2021 |
| HADHB | 2 | Jul 9, 2020 |
| HBB | 287 | Jan 6, 2022 |
| HCFC1 | 1 | Jul 1, 2020 |
| HDAC2 | 1 | Dec 31, 2020 |
| HDAC8 | 3 | Apr 29, 2020 |
| HEPACAM | 2 | Nov 16, 2021 |
| HERC1 | 2 | Aug 5, 2021 |
| HEXA | 70 | Jan 6, 2022 |
| HEXB | 38 | Jan 6, 2022 |
| HFE | 6 | Dec 21, 2021 |
| HFE-AS1 | 3 | Mar 17, 2021 |
| HGSNAT | 23 | Jan 6, 2022 |
| HIVEP2 | 1 | Apr 7, 2021 |
| HLCS | 11 | Jan 6, 2022 |
| HMGCL | 8 | Oct 22, 2021 |
| HNF1A | 53 | Jun 17, 2021 |
| HNF1B | 24 | Aug 5, 2021 |
| HNF4A | 40 | Jun 17, 2021 |
| HOGA1 | 3 | Jan 6, 2022 |
| HOPX | 4 | Mar 6, 2020 |
| HOXB13 | 4 | Oct 22, 2021 |
| HPD | 3 | Jan 6, 2022 |
| HPS1 | 2 | Nov 10, 2020 |
| HPS4 | 1 | Aug 5, 2021 |
| HPS5 | 1 | Jan 6, 2022 |
| HRAS | 40 | Dec 21, 2021 |
| HSD11B2 | 1 | Aug 18, 2011 |
| HSD17B4 | 10 | Mar 17, 2021 |
| HSD3B2 | 2 | Jan 6, 2022 |
| HSPG2 | 3 | Jul 1, 2020 |
| HYAL1 | 1 | Jan 6, 2022 |
| HYLS1 | 2 | Jan 6, 2022 |
| IDS | 10 | May 19, 2021 |
| IDUA | 55 | Jan 6, 2022 |
| IFNGR1 | 11 | Mar 6, 2020 |
| IFNGR2 | 4 | Mar 6, 2020 |
| IFT140 | 3 | Nov 16, 2021 |
| IFT80 | 1 | Dec 31, 2020 |
| IGHMBP2 | 1 | Apr 24, 2019 |
| IKBKG | 9 | Aug 6, 2020 |
| IL2RG | 14 | Oct 6, 2020 |
| IL4I1 | 2 | Mar 6, 2020 |
| IL7R | 10 | Apr 7, 2021 |
| INF2 | 1 | Dec 31, 2020 |
| INPP5E | 1 | Dec 21, 2021 |
| INS | 5 | Nov 17, 2015 |
| INS-IGF2 | 5 | Nov 17, 2015 |
| INSR | 1 | Dec 2, 2020 |
| IRF2BPL | 1 | Nov 16, 2021 |
| IRF8 | 1 | Mar 6, 2020 |
| ITPA | 2 | Jan 6, 2022 |
| ITPR1 | 1 | Apr 24, 2019 |
| IVD | 3 | Jan 6, 2022 |
| JAG1 | 2 | Feb 9, 2021 |
| JAK3 | 19 | Nov 16, 2021 |
| JUP | 54 | Dec 21, 2021 |
| KBTBD13 | 1 | Dec 31, 2020 |
| KCNC1 | 1 | Mar 6, 2020 |
| KCNE1 | 7 | Dec 21, 2021 |
| KCNE2 | 7 | Sep 1, 2021 |
| KCNH2 | 74 | Jan 6, 2022 |
| KCNJ11 | 5 | Aug 5, 2021 |
| KCNJ2 | 6 | Apr 29, 2020 |
| KCNK9 | 1 | Mar 6, 2020 |
| KCNQ1 | 65 | Dec 21, 2021 |
| KCNQ1-AS1 | 5 | Dec 21, 2021 |
| KCNQ1OT1 | 6 | Oct 22, 2021 |
| KCTD7 | 3 | Dec 21, 2021 |
| KDM3B | 1 | Aug 5, 2021 |
| KDM5B | 1 | Aug 5, 2021 |
| KDM5C | 1 | Dec 31, 2020 |
| KDM6A | 1 | Dec 2, 2020 |
| KIAA0586 | 1 | Aug 5, 2021 |
| KIF14 | 2 | Aug 5, 2021 |
| KIF1A | 3 | Dec 21, 2021 |
| KIF5A | 1 | Apr 29, 2020 |
| KIF7 | 2 | Jan 6, 2022 |
| KIRREL2 | 1 | Mar 6, 2020 |
| KLF11 | 1 | Aug 5, 2021 |
| KLLN | 21 | Aug 5, 2021 |
| KMT2C | 4 | Aug 5, 2021 |
| KMT2E | 1 | Mar 6, 2020 |
| KMT5B | 1 | Aug 5, 2021 |
| KRAS | 24 | Apr 27, 2021 |
| KRT14 | 1 | Mar 6, 2020 |
| L1CAM | 10 | Sep 1, 2021 |
| LAMA2 | 11 | Jan 6, 2022 |
| LAMA3 | 6 | Nov 16, 2021 |
| LAMA5 | 1 | Aug 6, 2020 |
| LAMB3 | 26 | Jan 6, 2022 |
| LAMC2 | 7 | Jul 7, 2021 |
| LAMP2 | 5 | Mar 6, 2020 |
| LCA5 | 2 | Sep 1, 2021 |
| LCT | 2 | Apr 29, 2020 |
| LDB3 | 40 | Dec 21, 2021 |
| LDLR | 218 | Jan 6, 2022 |
| LDLR-AS1 | 3 | Oct 22, 2021 |
| LDLRAP1 | 15 | Jan 6, 2022 |
| LEPR | 3 | Aug 18, 2011 |
| LHCGR | 3 | Aug 18, 2011 |
| LIG3 | 29 | Nov 16, 2021 |
| LIG4 | 2 | Jan 6, 2022 |
| LIPA | 2 | Jan 6, 2022 |
| LMNA | 33 | Nov 16, 2021 |
| LOC100130587 | 1 | Feb 9, 2021 |
| LOC100507346 | 4 | Jul 1, 2020 |
| LOC101448202 | 5 | Jul 1, 2020 |
| LOC101927055 | 20 | Nov 16, 2021 |
| LOC102723566 | 1 | Aug 5, 2021 |
| LOC102724058 | 21 | Aug 6, 2020 |
| LOC105371046 | 2 | Sep 1, 2021 |
| LOC105378311 | 2 | Nov 16, 2021 |
| LOC106029312 | 1 | Jan 6, 2022 |
| LOC106050102 | 6 | May 19, 2021 |
| LOC106099062 | 182 | Jan 6, 2022 |
| LOC106501712 | 2 | Jan 6, 2022 |
| LOC106501713 | 5 | Jan 6, 2022 |
| LOC106627981 | 72 | Jan 6, 2022 |
| LOC106736614 | 1 | Aug 18, 2011 |
| LOC106780800 | 10 | Jan 6, 2022 |
| LOC106799833 | 14 | Jan 6, 2022 |
| LOC107133510 | 284 | Jan 6, 2022 |
| LOC107303338 | 5 | Jan 6, 2022 |
| LOC107303340 | 49 | Jan 6, 2022 |
| LOC107303343 | 2 | Jul 1, 2020 |
| LOC107652445 | 3 | Aug 18, 2011 |
| LOC107982234 | 4 | Jul 1, 2020 |
| LOC108491825 | 2 | Jan 25, 2018 |
| LOC109461484 | 1 | Apr 29, 2020 |
| LOC110006319 | 107 | Jan 6, 2022 |
| LOC110011216 | 3 | Mar 6, 2020 |
| LOC110121269 | 14 | Apr 27, 2021 |
| LOC110121471 | 1 | Mar 17, 2021 |
| LOC110631417 | 1 | Dec 2, 2020 |
| LOC111674463 | 1 | Sep 24, 2019 |
| LOC111674472 | 73 | Jan 6, 2022 |
| LOC111674475 | 25 | Apr 27, 2021 |
| LOC111674477 | 22 | Jan 6, 2022 |
| LOC112533672 | 2 | Jan 6, 2022 |
| LOC113633875 | 1 | Jan 25, 2018 |
| LOC113633877 | 3 | Apr 24, 2019 |
| LOC113664106 | 6 | Aug 5, 2021 |
| LOC113939944 | 6 | Dec 21, 2021 |
| LOC114827827 | 6 | Dec 2, 2020 |
| LOC114827850 | 1 | Sep 9, 2020 |
| LOC114827851 | 4 | Sep 9, 2020 |
| LOC117038795 | 1 | Oct 22, 2021 |
| LOC117125594 | 1 | Dec 21, 2021 |
| LOC121175350 | 1 | May 19, 2021 |
| LOC122152296 | 1 | Oct 22, 2021 |
| LOX | 7 | Jan 25, 2018 |
| LOXHD1 | 3 | Dec 21, 2021 |
| LPL | 19 | Jan 6, 2022 |
| LRAT | 2 | Jan 6, 2022 |
| LRP2 | 5 | Jan 6, 2022 |
| LRP4 | 1 | Jan 6, 2022 |
| LRP4-AS1 | 1 | Jan 6, 2022 |
| LRP5 | 4 | Jan 6, 2022 |
| LRPPRC | 3 | Sep 1, 2021 |
| LRRC56 | 40 | Dec 21, 2021 |
| LRRK2 | 1 | Jan 6, 2022 |
| LTBP2 | 1 | Jan 6, 2022 |
| LTBP4 | 1 | Jan 6, 2022 |
| LZTR1 | 148 | Jan 6, 2022 |
| MACF1 | 1 | Nov 10, 2020 |
| MAGEL2 | 1 | Aug 6, 2020 |
| MAK | 1 | May 19, 2021 |
| MALT1 | 1 | Jan 6, 2022 |
| MAN2B1 | 23 | Jan 6, 2022 |
| MAN2B2 | 2 | Apr 27, 2021 |
| MANBA | 12 | Jan 6, 2022 |
| MAP2K1 | 40 | Dec 21, 2021 |
| MAP2K2 | 96 | Jan 6, 2022 |
| MAPRE2 | 1 | Apr 24, 2019 |
| MAX | 2 | Jan 25, 2018 |
| MC2R | 1 | Dec 2, 2020 |
| MC4R | 8 | Sep 24, 2019 |
| MCCC1 | 2 | Jan 6, 2022 |
| MCCC2 | 4 | Jan 6, 2022 |
| MCFD2 | 1 | Feb 9, 2021 |
| MCOLN1 | 16 | Oct 22, 2021 |
| MCPH1 | 1 | Mar 6, 2020 |
| MEA1 | 1 | Apr 24, 2019 |
| MECP2 | 81 | Dec 21, 2021 |
| MED12 | 3 | Nov 16, 2021 |
| MED13 | 1 | Nov 16, 2021 |
| MED13L | 2 | Feb 9, 2021 |
| MED23 | 2 | Dec 21, 2021 |
| MEFV | 122 | Jan 6, 2022 |
| MEGF8 | 5 | Jan 6, 2022 |
| MEN1 | 35 | Jan 6, 2022 |
| MET | 19 | Nov 16, 2021 |
| METTL5 | 1 | Apr 29, 2020 |
| MFF-DT | 35 | Jan 6, 2022 |
| MFSD8 | 2 | Jan 6, 2022 |
| MHRT | 12 | Dec 21, 2021 |
| MICU2 | 1 | May 19, 2021 |
| MID1 | 2 | Jun 17, 2021 |
| MIR3606 | 1 | Jan 25, 2018 |
| MIR3936HG | 4 | Jan 6, 2022 |
| MITF | 5 | Sep 24, 2019 |
| MKKS | 2 | Jan 6, 2022 |
| MKS1 | 3 | Dec 21, 2021 |
| MLC1 | 3 | Jan 6, 2022 |
| MLH1 | 289 | Jan 6, 2022 |
| MMAA | 9 | Jan 6, 2022 |
| MMAB | 12 | Jan 6, 2022 |
| MMACHC | 34 | Jan 6, 2022 |
| MMADHC | 1 | Feb 26, 2021 |
| MMUT | 45 | Jan 6, 2022 |
| MN1 | 2 | Oct 6, 2020 |
| MPL | 13 | Jan 6, 2022 |
| MPV17 | 1 | Sep 1, 2021 |
| MPZ | 1 | Jan 25, 2018 |
| MRAS | 15 | Dec 21, 2021 |
| MRE11 | 38 | Dec 21, 2021 |
| MSH2 | 385 | Jan 6, 2022 |
| MSH6 | 535 | Jan 6, 2022 |
| MSTO1 | 2 | May 19, 2021 |
| MTHFD1 | 3 | Jan 6, 2022 |
| MTHFR | 1 | Jul 7, 2021 |
| MTM1 | 2 | May 19, 2021 |
| MTTP | 22 | Jan 6, 2022 |
| MUS81 | 1 | Jan 25, 2018 |
| MUTYH | 150 | Jan 6, 2022 |
| MVK | 2 | Jan 6, 2022 |
| MYBPC3 | 96 | Jan 6, 2022 |
| MYH11 | 112 | Dec 21, 2021 |
| MYH14 | 2 | Apr 7, 2021 |
| MYH6 | 99 | Jan 6, 2022 |
| MYH7 | 94 | Jan 6, 2022 |
| MYH9 | 2 | Jan 6, 2022 |
| MYL2 | 17 | Dec 21, 2021 |
| MYL3 | 12 | Jan 6, 2022 |
| MYLK | 103 | Jan 6, 2022 |
| MYLK-AS1 | 12 | Jan 6, 2022 |
| MYLK2 | 16 | Mar 17, 2021 |
| MYO19 | 2 | Dec 21, 2021 |
| MYO1E | 1 | Jan 6, 2022 |
| MYO1F | 1 | Mar 6, 2020 |
| MYO7A | 1 | Dec 2, 2020 |
| MYOT | 1 | Mar 6, 2020 |
| MYOZ2 | 4 | Jan 25, 2018 |
| MYRF | 1 | Apr 29, 2020 |
| MYT1L | 1 | Mar 6, 2020 |
| NADSYN1 | 1 | Jan 25, 2018 |
| NAGA | 3 | Nov 16, 2021 |
| NAGLU | 23 | Jan 6, 2022 |
| NBAS | 3 | Jan 6, 2022 |
| NBN | 147 | Jan 6, 2022 |
| NCF1 | 1 | Jan 6, 2022 |
| NCF2 | 2 | Jan 6, 2022 |
| NCF4 | 1 | Aug 5, 2021 |
| NCF4-AS1 | 1 | Aug 5, 2021 |
| NCOR2 | 1 | Aug 6, 2020 |
| NDE1 | 44 | Oct 22, 2021 |
| NDST1 | 1 | Dec 31, 2020 |
| NDUFAF2 | 5 | Dec 31, 2020 |
| NDUFAF5 | 2 | Jan 6, 2022 |
| NDUFAF8 | 1 | Jun 17, 2021 |
| NDUFS2 | 2 | Mar 6, 2020 |
| NDUFS4 | 6 | Oct 22, 2021 |
| NDUFS6 | 1 | Jan 6, 2022 |
| NDUFS7 | 2 | Aug 5, 2021 |
| NDUFV1 | 6 | Nov 16, 2021 |
| NEB | 118 | Jan 6, 2022 |
| NEDD4L | 1 | Mar 6, 2020 |
| NEU1 | 5 | Jan 6, 2022 |
| NEUROD1 | 1 | Aug 5, 2021 |
| NEXMIF | 1 | Dec 31, 2020 |
| NF1 | 146 | Jan 6, 2022 |
| NF2 | 8 | Feb 26, 2021 |
| NFIB | 1 | Aug 6, 2020 |
| NFIX | 2 | Mar 6, 2020 |
| NFKB2 | 1 | Apr 29, 2020 |
| NGLY1 | 2 | Dec 21, 2021 |
| NIPAL4 | 2 | Jan 6, 2022 |
| NIPBL | 1 | Feb 9, 2021 |
| NKX2-1 | 1 | Mar 6, 2020 |
| NKX2-5 | 10 | Mar 6, 2020 |
| NLGN3 | 2 | Apr 29, 2020 |
| NME7 | 1 | Nov 20, 2015 |
| NOG | 1 | Mar 6, 2020 |
| NONO | 1 | Sep 1, 2021 |
| NOS1AP | 16 | Jan 6, 2022 |
| NOTCH1 | 1 | Jul 9, 2020 |
| NOTCH3 | 2 | Jan 6, 2022 |
| NPC1 | 36 | Jan 6, 2022 |
| NPC2 | 4 | Dec 31, 2020 |
| NPHP1 | 1 | Dec 21, 2021 |
| NPHP3 | 3 | Jan 6, 2022 |
| NPHP3-ACAD11 | 3 | Jan 6, 2022 |
| NPHP3-AS1 | 1 | Jan 6, 2022 |
| NPHP4 | 2 | Jun 17, 2021 |
| NPHS1 | 52 | Jan 6, 2022 |
| NPHS2 | 23 | Jan 6, 2022 |
| NPPA | 6 | Dec 2, 2020 |
| NPPA-AS1 | 6 | Dec 2, 2020 |
| NR0B1 | 3 | Apr 27, 2021 |
| NR2F1 | 1 | Mar 6, 2020 |
| NRAS | 14 | Dec 21, 2021 |
| NRXN1 | 1 | Mar 6, 2020 |
| NSD1 | 1 | Apr 24, 2019 |
| NSDHL | 1 | Mar 6, 2020 |
| NSUN2 | 2 | Apr 29, 2020 |
| NSUN6 | 17 | Dec 21, 2021 |
| NTRK1 | 7 | Jan 6, 2022 |
| NUP214 | 1 | Mar 6, 2020 |
| NUP62 | 2 | Mar 6, 2020 |
| OAT | 1 | Oct 22, 2021 |
| OBSL1 | 5 | Jan 6, 2022 |
| OCRL | 1 | Dec 21, 2021 |
| OSGIN2 | 1 | Sep 1, 2021 |
| OTC | 23 | Oct 22, 2021 |
| OTOF | 8 | Jan 6, 2022 |
| OTOG | 1 | Feb 26, 2021 |
| OTUD5 | 1 | Sep 1, 2021 |
| OTUD6B | 2 | Mar 6, 2020 |
| PACS1 | 1 | Mar 6, 2020 |
| PAH | 150 | Jan 6, 2022 |
| PALB2 | 270 | Jan 6, 2022 |
| PANK2 | 4 | Jan 6, 2022 |
| PARS2 | 1 | Nov 16, 2021 |
| PAX3 | 1 | Feb 9, 2021 |
| PAX4 | 1 | Aug 5, 2021 |
| PCCA | 23 | Jan 6, 2022 |
| PCCB | 28 | Jan 6, 2022 |
| PCDH15 | 25 | Jan 6, 2022 |
| PCSK9 | 72 | Dec 21, 2021 |
| PDHA1 | 6 | Jan 6, 2022 |
| PDHX | 2 | Jan 6, 2022 |
| PDX1 | 14 | Sep 24, 2019 |
| PEX1 | 38 | Jan 6, 2022 |
| PEX10 | 7 | Nov 16, 2021 |
| PEX12 | 12 | Jan 6, 2022 |
| PEX19 | 1 | Nov 16, 2021 |
| PEX2 | 5 | Apr 24, 2019 |
| PEX26 | 6 | Jan 6, 2022 |
| PEX5 | 1 | May 19, 2021 |
| PEX6 | 25 | Aug 5, 2021 |
| PEX7 | 12 | Dec 21, 2021 |
| PFKM | 1 | Jan 6, 2022 |
| PGBD3 | 1 | Jan 6, 2022 |
| PGM3 | 2 | Oct 22, 2021 |
| PHEX | 7 | Aug 18, 2011 |
| PHF3 | 1 | Nov 16, 2021 |
| PHF8 | 1 | May 13, 2020 |
| PHGDH | 6 | Jan 6, 2022 |
| PHKA2 | 3 | Nov 16, 2021 |
| PHKA2-AS1 | 2 | Nov 16, 2021 |
| PHKB | 3 | Jan 6, 2022 |
| PHKG2 | 1 | Aug 5, 2021 |
| PHOX2B | 7 | Mar 6, 2020 |
| PHOX2B-AS1 | 1 | Jan 25, 2018 |
| PIEZO1 | 1 | Jan 6, 2022 |
| PIEZO2 | 1 | Oct 6, 2020 |
| PIGW | 2 | Dec 31, 2020 |
| PIK3CA | 1 | Feb 9, 2021 |
| PIK3R1 | 1 | Mar 6, 2020 |
| PKD1 | 1 | Jun 17, 2021 |
| PKD2L2-DT | 1 | Mar 6, 2020 |
| PKHD1 | 167 | Jan 6, 2022 |
| PKP2 | 78 | Jan 6, 2022 |
| PLA2G6 | 8 | Jan 6, 2022 |
| PLCH2 | 1 | Feb 9, 2021 |
| PLD1 | 1 | Dec 31, 2020 |
| PLEKHG2 | 1 | Apr 24, 2019 |
| PLEKHG5 | 1 | Aug 5, 2021 |
| PLN | 1 | Mar 6, 2020 |
| PLOD2 | 1 | Dec 21, 2021 |
| PLUT | 7 | Sep 24, 2019 |
| PMM2 | 44 | Jan 6, 2022 |
| PMP22 | 1 | Mar 6, 2020 |
| PMS2 | 347 | Jan 6, 2022 |
| PNKD | 1 | Jan 6, 2022 |
| PNKP | 1 | Apr 29, 2020 |
| PNP | 1 | Jan 6, 2022 |
| PNPLA1 | 2 | Jan 6, 2022 |
| PNPLA8 | 2 | Oct 6, 2020 |
| PNPO | 1 | Jan 6, 2022 |
| POGZ | 1 | Dec 2, 2020 |
| POLD1 | 67 | Dec 21, 2021 |
| POLE | 101 | Dec 21, 2021 |
| POLG | 4 | Jan 6, 2022 |
| POLH | 2 | Jan 6, 2022 |
| POLR1C | 3 | Jan 6, 2022 |
| POLR3B | 1 | Mar 6, 2020 |
| POMGNT1 | 6 | Jan 6, 2022 |
| POMT1 | 3 | Jan 6, 2022 |
| POMT2 | 6 | Jan 6, 2022 |
| PON2 | 11 | Nov 16, 2021 |
| POR | 2 | Jan 6, 2022 |
| POU1F1 | 1 | Aug 18, 2011 |
| PPM1D | 1 | Mar 6, 2020 |
| PPP2R5D | 1 | Apr 24, 2019 |
| PPT1 | 16 | Dec 21, 2021 |
| PRF1 | 13 | Jan 6, 2022 |
| PRKAG2 | 28 | Dec 21, 2021 |
| PRKAR1A | 43 | Oct 22, 2021 |
| PRKCG | 1 | Apr 29, 2020 |
| PRKDC | 2 | Jan 6, 2022 |
| PRMT7 | 1 | Jul 1, 2020 |
| PROKR2 | 1 | Dec 21, 2021 |
| PROP1 | 4 | Aug 18, 2011 |
| PRSS1 | 43 | Dec 21, 2021 |
| PSEN1 | 1 | Jul 1, 2020 |
| PTCH1 | 27 | Dec 21, 2021 |
| PTCHD1 | 1 | Apr 27, 2021 |
| PTCHD1-AS | 2 | Aug 18, 2011 |
| PTEN | 88 | Jan 6, 2022 |
| PTHLH | 1 | Aug 5, 2021 |
| PTPN11 | 113 | Jan 6, 2022 |
| PTPRC | 1 | Jan 6, 2022 |
| PTS | 2 | Dec 21, 2021 |
| PUF60 | 1 | Nov 16, 2021 |
| PUM1 | 1 | Mar 6, 2020 |
| PURA | 1 | Mar 6, 2020 |
| PUS3 | 2 | Jan 6, 2022 |
| PYCR1 | 3 | Dec 21, 2021 |
| PYGM | 3 | Nov 16, 2021 |
| RAB23 | 1 | Jan 6, 2022 |
| RAB33A | 2 | Jul 1, 2020 |
| RAD21 | 1 | Nov 10, 2020 |
| RAD50 | 69 | Jan 6, 2022 |
| RAD51C | 93 | Dec 21, 2021 |
| RAD51D | 84 | Dec 21, 2021 |
| RAD51L3-RFFL | 84 | Dec 21, 2021 |
| RAF1 | 73 | Jan 6, 2022 |
| RAG1 | 17 | Jan 6, 2022 |
| RAG2 | 13 | Nov 16, 2021 |
| RAPSN | 3 | Jan 6, 2022 |
| RARS2 | 7 | Jan 6, 2022 |
| RASA2 | 63 | Jan 6, 2022 |
| RB1 | 20 | Jan 6, 2022 |
| RBM20 | 33 | Nov 16, 2021 |
| RD3 | 1 | Jan 6, 2022 |
| RDH12 | 4 | Jan 6, 2022 |
| RECQL4 | 3 | Sep 1, 2021 |
| RELN | 2 | May 19, 2021 |
| RET | 34 | Jan 6, 2022 |
| RFX5 | 2 | Jan 6, 2022 |
| RFXANK | 1 | Jan 6, 2022 |
| RIF1 | 33 | Sep 1, 2021 |
| RIMS1 | 1 | Nov 10, 2020 |
| RIT1 | 22 | Jan 6, 2022 |
| RLBP1 | 1 | Oct 22, 2021 |
| RMRP | 49 | Dec 21, 2021 |
| RNASEH2A | 2 | Dec 21, 2021 |
| RNASEH2B | 1 | Mar 6, 2020 |
| RNASEH2C | 1 | Apr 29, 2020 |
| RP2 | 2 | Dec 21, 2021 |
| RPE65 | 2 | Jan 6, 2022 |
| RPGRIP1 | 4 | Jan 6, 2022 |
| RPGRIP1L | 4 | Jan 6, 2022 |
| RPH3A | 1 | Mar 6, 2020 |
| RPIA | 2 | Mar 6, 2020 |
| RPL36A-HNRNPH2 | 176 | Dec 21, 2021 |
| RPS6KA3 | 1 | Aug 6, 2020 |
| RRAS | 37 | Jan 6, 2022 |
| RTEL1 | 15 | Sep 24, 2019 |
| RTEL1-TNFRSF6B | 15 | Sep 24, 2019 |
| RTN2 | 1 | Apr 24, 2019 |
| RUNX2 | 1 | Mar 6, 2020 |
| RYR1 | 10 | Aug 5, 2021 |
| RYR2 | 227 | Jan 6, 2022 |
| SACS | 21 | Jan 6, 2022 |
| SAMHD1 | 2 | Dec 21, 2021 |
| SBF1 | 2 | Apr 24, 2019 |
| SCAMP4 | 2 | Dec 31, 2020 |
| SCN10A | 2 | Dec 21, 2021 |
| SCN1A | 37 | Oct 22, 2021 |
| SCN1A-AS1 | 1 | Dec 31, 2020 |
| SCN1B | 17 | Aug 5, 2021 |
| SCN2A | 2 | Dec 31, 2020 |
| SCN4A | 1 | Apr 29, 2020 |
| SCN4B | 9 | Jan 6, 2022 |
| SCN5A | 144 | Dec 21, 2021 |
| SCN8A | 1 | Feb 9, 2021 |
| SCN9A | 1 | Dec 31, 2020 |
| SDCCAG8 | 2 | Nov 16, 2021 |
| SDHAF2 | 1 | Nov 10, 2020 |
| SDHB | 22 | Jan 6, 2022 |
| SDHC | 2 | Jan 25, 2018 |
| SDHD | 9 | Mar 17, 2021 |
| SEC63 | 1 | Aug 5, 2021 |
| SELENON | 1 | Oct 22, 2021 |
| SEPSECS | 2 | Sep 1, 2021 |
| SERPINC1 | 2 | Oct 22, 2021 |
| SERPINF1 | 4 | Jan 6, 2022 |
| SETBP1 | 1 | Nov 16, 2021 |
| SETD1B | 1 | Dec 21, 2021 |
| SETD2 | 2 | Mar 6, 2020 |
| SETD5 | 1 | Aug 6, 2020 |
| SF3B1 | 1 | Aug 5, 2021 |
| SFTA3 | 1 | Mar 6, 2020 |
| SGCA | 2 | Mar 6, 2020 |
| SGCB | 2 | Nov 16, 2021 |
| SGCD | 12 | Dec 21, 2021 |
| SGCG | 3 | Jan 6, 2022 |
| SGSH | 30 | Jan 6, 2022 |
| SH2D1A | 3 | Apr 24, 2019 |
| SHOC2 | 33 | Dec 21, 2021 |
| SHOX | 6 | Mar 6, 2020 |
| SIM1 | 1 | Dec 2, 2020 |
| SKIV2L | 4 | Jan 6, 2022 |
| SLC12A1 | 1 | Jan 6, 2022 |
| SLC12A6 | 10 | Aug 5, 2021 |
| SLC16A2 | 1 | Aug 5, 2021 |
| SLC17A5 | 14 | Oct 22, 2021 |
| SLC1A2 | 1 | Feb 9, 2021 |
| SLC22A5 | 43 | Jan 6, 2022 |
| SLC25A1 | 2 | Mar 6, 2020 |
| SLC25A15 | 3 | Sep 1, 2021 |
| SLC25A20 | 11 | Dec 21, 2021 |
| SLC26A1 | 15 | Dec 21, 2021 |
| SLC26A11 | 1 | Jul 1, 2020 |
| SLC26A2 | 20 | Jan 6, 2022 |
| SLC26A4 | 15 | Jan 6, 2022 |
| SLC27A4 | 1 | Jan 6, 2022 |
| SLC2A10 | 25 | Dec 21, 2021 |
| SLC34A3 | 8 | Jan 25, 2018 |
| SLC35A3 | 1 | Jan 25, 2018 |
| SLC35C1 | 1 | May 19, 2021 |
| SLC37A4 | 23 | Jan 6, 2022 |
| SLC39A5 | 1 | Oct 6, 2020 |
| SLC46A1 | 1 | Jan 6, 2022 |
| SLC4A11 | 3 | Jan 6, 2022 |
| SLC6A19 | 1 | Apr 29, 2020 |
| SLC6A8 | 1 | Apr 29, 2020 |
| SLC7A7 | 3 | Nov 16, 2021 |
| SLC9A1 | 1 | Jan 6, 2022 |
| SLC9A7 | 1 | Oct 22, 2021 |
| SLITRK1 | 1 | Mar 6, 2020 |
| SLX4 | 1 | Feb 9, 2021 |
| SMAD3 | 12 | Jul 7, 2021 |
| SMAD4 | 56 | Nov 16, 2021 |
| SMARCA1 | 1 | Mar 6, 2020 |
| SMARCA2 | 2 | Dec 31, 2020 |
| SMARCA4 | 1 | Apr 29, 2020 |
| SMARCB1 | 7 | Jan 6, 2022 |
| SMC3 | 1 | Apr 24, 2019 |
| SMN1 | 41 | Jan 6, 2022 |
| SMN2 | 1 | Apr 29, 2020 |
| SMPD1 | 55 | Jan 6, 2022 |
| SMPX | 1 | Feb 9, 2021 |
| SNAPC5 | 6 | Dec 31, 2020 |
| SNHG14 | 1 | Apr 29, 2020 |
| SNHG31 | 1 | Jan 6, 2022 |
| SNTA1 | 24 | Jan 6, 2022 |
| SORD | 1 | Dec 21, 2021 |
| SOS1 | 134 | Dec 21, 2021 |
| SOS2 | 95 | Jan 6, 2022 |
| SOX11 | 1 | Mar 6, 2020 |
| SP110 | 3 | Jan 6, 2022 |
| SP140 | 2 | Jan 6, 2022 |
| SPAST | 2 | Jan 6, 2022 |
| SPATA22 | 16 | Apr 27, 2021 |
| SPATA7 | 5 | Jan 6, 2022 |
| SPECC1L | 1 | Dec 2, 2020 |
| SPECC1L-ADORA2A | 1 | Dec 2, 2020 |
| SPG11 | 8 | Jan 6, 2022 |
| SPG7 | 1 | Jan 6, 2022 |
| SPINK1 | 29 | Nov 16, 2021 |
| SPR | 1 | Mar 6, 2020 |
| SPRED1 | 37 | Jan 6, 2022 |
| SPTAN1 | 1 | Apr 24, 2019 |
| SPTBN1 | 1 | Nov 16, 2021 |
| SPTBN2 | 1 | Mar 6, 2020 |
| SRCAP | 2 | Oct 6, 2020 |
| SRFBP1 | 1 | Jan 25, 2018 |
| SRGAP1 | 1 | Feb 26, 2021 |
| SSUH2 | 2 | Mar 6, 2020 |
| STAG1 | 1 | Apr 24, 2019 |
| STAR | 2 | Oct 22, 2021 |
| STAT3 | 35 | Jan 6, 2022 |
| STK11 | 120 | Jan 6, 2022 |
| STON1-GTF2A1L | 3 | Aug 18, 2011 |
| STRC | 2 | Jan 6, 2022 |
| STXBP2 | 2 | Jan 6, 2022 |
| STYXL2 | 1 | Mar 6, 2020 |
| SUFU | 8 | Apr 24, 2019 |
| SUMF1 | 10 | Dec 2, 2020 |
| SUOX | 3 | Jan 6, 2022 |
| SURF1 | 31 | Jan 6, 2022 |
| SYCE2 | 3 | Mar 6, 2020 |
| SYNE1 | 3 | Mar 6, 2020 |
| SYNE4 | 1 | Jan 6, 2022 |
| SYNGAP1 | 1 | Mar 6, 2020 |
| TAB2 | 1 | Apr 27, 2021 |
| TAF1 | 1 | Mar 6, 2020 |
| TAF6 | 2 | Dec 21, 2021 |
| TAFAZZIN | 5 | Mar 17, 2021 |
| TAOK1 | 1 | Mar 6, 2020 |
| TARID | 3 | Sep 1, 2021 |
| TBCD | 1 | Mar 6, 2020 |
| TBCEL-TECTA | 1 | Jan 6, 2022 |
| TBCK | 2 | Mar 6, 2020 |
| TBR1 | 1 | Jul 7, 2021 |
| TBX22 | 1 | Jun 17, 2021 |
| TBX3 | 1 | Apr 29, 2020 |
| TBX5 | 8 | Mar 6, 2020 |
| TCAP | 10 | Dec 21, 2021 |
| TCF4 | 1 | May 13, 2020 |
| TCIRG1 | 5 | Sep 1, 2021 |
| TCTN2 | 2 | Dec 21, 2021 |
| TECPR2 | 3 | Jan 6, 2022 |
| TECTA | 1 | Jan 6, 2022 |
| TGFB2 | 13 | Sep 1, 2021 |
| TGFB3 | 9 | Apr 7, 2021 |
| TGFBR1 | 25 | Jan 6, 2022 |
| TGFBR2 | 42 | Dec 21, 2021 |
| TGM1 | 5 | Jan 6, 2022 |
| TH | 6 | Jan 6, 2022 |
| TH2-LCR | 6 | Jun 17, 2021 |
| TH2LCRR | 10 | Sep 1, 2021 |
| THBD | 1 | Aug 5, 2021 |
| THOC2 | 1 | Dec 21, 2021 |
| THRB | 1 | Jan 6, 2022 |
| TK2 | 1 | Sep 1, 2021 |
| TLL1 | 1 | Dec 31, 2020 |
| TMCO1 | 1 | Dec 2, 2020 |
| TMEM127 | 3 | Jun 17, 2021 |
| TMEM216 | 7 | Nov 16, 2021 |
| TMEM231 | 3 | Nov 16, 2021 |
| TMEM43 | 35 | Nov 16, 2021 |
| TMEM50B | 1 | Aug 18, 2011 |
| TMEM67 | 10 | Jan 6, 2022 |
| TMLHE | 1 | Mar 6, 2020 |
| TMPO | 20 | Nov 16, 2021 |
| TMPO-AS1 | 4 | Nov 16, 2021 |
| TMPPE | 2 | Apr 24, 2019 |
| TMPRSS3 | 2 | Aug 6, 2020 |
| TNC | 2 | Dec 2, 2020 |
| TNFRSF13B | 15 | Jul 7, 2021 |
| TNFSF11 | 1 | Jan 6, 2022 |
| TNNC1 | 7 | Sep 1, 2021 |
| TNNI3 | 18 | Jan 6, 2022 |
| TNNT1 | 1 | Aug 18, 2011 |
| TNNT2 | 25 | May 19, 2021 |
| TNXB | 1 | Nov 17, 2015 |
| TOE1 | 4 | Oct 22, 2021 |
| TOP2B | 1 | Mar 6, 2020 |
| TOPORS | 1 | Oct 6, 2020 |
| TP53 | 96 | Dec 21, 2021 |
| TPM1 | 8 | Dec 21, 2021 |
| TPO | 2 | Mar 6, 2020 |
| TPP1 | 17 | Jan 6, 2022 |
| TRAPPC9 | 1 | Apr 29, 2020 |
| TRB | 43 | Dec 21, 2021 |
| TRDN | 3 | Aug 5, 2021 |
| TREX1 | 1 | Jan 6, 2022 |
| TRIM59-IFT80 | 1 | Dec 31, 2020 |
| TRIO | 1 | Mar 6, 2020 |
| TRMU | 1 | Jan 6, 2022 |
| TRNT1 | 1 | Mar 6, 2020 |
| TSC1 | 25 | Jan 6, 2022 |
| TSC2 | 46 | Jan 6, 2022 |
| TSEN2 | 1 | Jan 6, 2022 |
| TSEN54 | 3 | Dec 21, 2021 |
| TSPAN1 | 6 | Jan 6, 2022 |
| TSPAN31 | 15 | Oct 22, 2021 |
| TTC37 | 2 | Dec 21, 2021 |
| TTC7A | 4 | Jan 6, 2022 |
| TTC8 | 3 | Jan 6, 2022 |
| TTN | 925 | Jan 6, 2022 |
| TTN-AS1 | 504 | Jan 6, 2022 |
| TTPA | 10 | Jan 6, 2022 |
| TTR | 41 | Dec 21, 2021 |
| TUBB3 | 1 | Jun 17, 2021 |
| TUBB4A | 1 | Apr 24, 2019 |
| TUBB6 | 1 | Mar 6, 2020 |
| TULP1 | 1 | Aug 6, 2020 |
| UBE3A | 1 | Apr 29, 2020 |
| UBR1 | 1 | Mar 6, 2020 |
| UMPS | 1 | May 19, 2021 |
| UNC13D | 6 | Jan 6, 2022 |
| UNC80 | 2 | Mar 6, 2020 |
| UNG | 4 | Mar 6, 2020 |
| UPB1 | 1 | Dec 21, 2021 |
| USH1C | 1 | Oct 22, 2021 |
| USH1G | 2 | Jan 6, 2022 |
| USH2A | 38 | Jan 6, 2022 |
| USH2A-AS1 | 1 | Dec 2, 2020 |
| USP9X | 2 | Apr 27, 2021 |
| VCL | 26 | Dec 21, 2021 |
| VCP | 1 | Jan 6, 2022 |
| VHL | 85 | Jan 6, 2022 |
| VPS13B | 30 | Jan 6, 2022 |
| VPS13C | 2 | Jul 1, 2020 |
| VPS53 | 2 | Oct 22, 2021 |
| VRK2 | 1 | Mar 17, 2021 |
| VWF | 3 | Jan 6, 2022 |
| WAC | 1 | Nov 16, 2021 |
| WAS | 23 | May 19, 2021 |
| WASHC4 | 2 | Oct 6, 2020 |
| WASHC5 | 1 | Jan 6, 2022 |
| WDFY3 | 1 | Mar 6, 2020 |
| WDPCP | 1 | Apr 29, 2020 |
| WDR11 | 1 | Mar 6, 2020 |
| WDR19 | 1 | Dec 21, 2021 |
| WDR26 | 2 | Apr 29, 2020 |
| WDR45 | 1 | Mar 6, 2020 |
| WDR62 | 2 | Apr 29, 2020 |
| WFS1 | 1 | Jan 6, 2022 |
| WHRN | 2 | Aug 5, 2021 |
| WRN | 5 | Jan 6, 2022 |
| WT1 | 8 | Aug 5, 2021 |
| WWOX | 1 | Mar 6, 2020 |
| XPA | 10 | Sep 1, 2021 |
| XPC | 26 | Jan 6, 2022 |
| ZAP70 | 8 | Aug 5, 2021 |
| ZBTB24 | 3 | Jan 6, 2022 |
| ZDHHC24 | 10 | May 19, 2021 |
| ZDHHC9 | 1 | Mar 6, 2020 |
| ZEB2 | 1 | Jan 6, 2022 |
| ZFPM1 | 1 | Oct 6, 2020 |
| ZFYVE26 | 2 | Oct 22, 2021 |
| ZNF276 | 2 | Jan 6, 2022 |
| ZNF407 | 2 | Feb 26, 2021 |
| ZNF469 | 8 | Jan 6, 2022 |
| ZNF711 | 1 | May 13, 2020 |
| ZNHIT3 | 1 | Dec 2, 2020 |